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A U-Shaped Association Between Blood mtDNA Copy Number and Risk of Type 2 Diabetes.
Xinhao Huang1, Zijian Tian2, Ying Pan3,4
1School of Public Health, Guangzhou Medical University, Guangzhou, China.
Diabetes Care
|March 16, 2026
Summary
Mitochondrial DNA copy number (mtDNA-CN) has a U-shaped association with type 2 diabetes risk in younger adults. Both low and high mtDNA-CN levels are linked to increased diabetes incidence, highlighting a nonlinear relationship.
Area of Science:
- Genetics and Epigenetics
- Metabolic Diseases
- Aging Research
Background:
- Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function.
- Previous studies show inconsistent associations between mtDNA-CN and type 2 diabetes (T2D) risk.
- The nonlinear relationship between mtDNA-CN and T2D risk remains underexplored.
Purpose of the Study:
- To investigate the nonlinear association between blood mtDNA-CN and incident type 2 diabetes.
- To explore age-specific patterns in the mtDNA-CN and T2D risk relationship.
Main Methods:
- Utilized data from 34,835 adults in the KARE cohort and 289,338 in the UK Biobank (UKB).
- Employed Cox proportional hazards and restricted cubic spline models to assess associations.
- Conducted age-stratified analyses to examine differential effects.
Main Results:
- A U-shaped association between mtDNA-CN and T2D risk was observed in the KARE cohort (P < 0.001).
- This U-shaped pattern was prominent in younger participants (<65 years in KARE, <50 years in UKB).
- mtDNA-CN demonstrated a decline with age, accelerating after approximately 50-65 years.
Conclusions:
- Blood mtDNA-CN exhibits a U-shaped association with incident type 2 diabetes, particularly in younger individuals.
- Elevated T2D risk is associated with both very low and very high mtDNA-CN levels in younger populations.
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